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Q9H3L0

- MMAD_HUMAN

UniProt

Q9H3L0 - MMAD_HUMAN

Protein

Methylmalonic aciduria and homocystinuria type D protein, mitochondrial

Gene

MMADHC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 2 (05 Jul 2005)
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    Functioni

    Involved in cobalamin metabolism.1 Publication

    GO - Biological processi

    1. cobalamin metabolic process Source: Reactome
    2. small molecule metabolic process Source: Reactome
    3. vitamin metabolic process Source: Reactome
    4. water-soluble vitamin metabolic process Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_163862. Cobalamin (Cbl, vitamin B12) transport and metabolism.
    REACT_169256. Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Methylmalonic aciduria and homocystinuria type D protein, mitochondrial
    Gene namesi
    Name:MMADHC
    Synonyms:C2orf25, CL25022
    ORF Names:HSPC161, My011
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:25221. MMADHC.

    Subcellular locationi

    Cytoplasm 1 Publication. Mitochondrion 1 Publication

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. mitochondrion Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti108 – 1081S → SLAEPLS in MMAHCD; cblD variant 2.
    VAR_043843
    Natural varianti182 – 1821T → N in MMAHCD; cblD variant 1. 1 Publication
    VAR_043844
    Natural varianti204 – 23229Missing in MMAHCD; cblD original.
    VAR_043845Add
    BLAST
    Natural varianti249 – 2491Y → C in MMAHCD; cblD variant 1. 1 Publication
    VAR_043846
    Natural varianti259 – 2591L → P in MMAHCD; cblD variant 1. 1 Publication
    VAR_043847

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi277410. phenotype.
    Orphaneti308380. Methylcobalamin deficiency type cblDv1.
    79283. Methylmalonic acidemia with homocystinuria, type cblD.
    308442. Vitamin B12-responsive methylmalonic acidemia, type cblDv2.
    PharmGKBiPA164723053.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 3838MitochondrionSequence AnalysisAdd
    BLAST
    Chaini39 – 296258Methylmalonic aciduria and homocystinuria type D protein, mitochondrialPRO_0000019534Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei203 – 2031N6-acetyllysine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9H3L0.
    PaxDbiQ9H3L0.
    PRIDEiQ9H3L0.

    PTM databases

    PhosphoSiteiQ9H3L0.

    Expressioni

    Tissue specificityi

    Widely expressed at high levels.1 Publication

    Gene expression databases

    ArrayExpressiQ9H3L0.
    BgeeiQ9H3L0.
    GenevestigatoriQ9H3L0.

    Organism-specific databases

    HPAiHPA037531.

    Interactioni

    Protein-protein interaction databases

    BioGridi118097. 2 interactions.
    STRINGi9606.ENSP00000301920.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H3L0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiNOG276245.
    HOGENOMiHOG000231797.
    InParanoidiQ9H3L0.
    OrthoDBiEOG7RBZ9D.
    PhylomeDBiQ9H3L0.
    TreeFamiTF314208.

    Family and domain databases

    InterProiIPR019362. MMADHC.
    [Graphical view]
    PANTHERiPTHR13192. PTHR13192. 1 hit.
    PfamiPF10229. DUF2246. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q9H3L0-1 [UniParc]FASTAAdd to Basket

    « Hide

    MANVLCNRAR LVSYLPGFCS LVKRVVNPKA FSTAGSSGSD ESHVAAAPPD    50
    ICSRTVWPDE TMGPFGPQDQ RFQLPGNIGF DCHLNGTASQ KKSLVHKTLP 100
    DVLAEPLSSE RHEFVMAQYV NEFQGNDAPV EQEINSAETY FESARVECAI 150
    QTCPELLRKD FESLFPEVAN GKLMILTVTQ KTKNDMTVWS EEVEIEREVL 200
    LEKFINGAKE ICYALRAEGY WADFIDPSSG LAFFGPYTNN TLFETDERYR 250
    HLGFSVDDLG CCKVIRHSLW GTHVVVGSIF TNATPDSHIM KKLSGN 296
    Length:296
    Mass (Da):32,940
    Last modified:July 5, 2005 - v2
    Checksum:i749C2A91D7E6C95D
    GO

    Sequence cautioni

    The sequence AAG43124.1 differs from that shown. Reason: Frameshift at positions 171, 178, 185, 188 and 200.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti204 – 2041F → S in AAG43124. 1 PublicationCurated
    Sequence conflicti211 – 2111I → N in AAG43124. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti108 – 1081S → SLAEPLS in MMAHCD; cblD variant 2.
    VAR_043843
    Natural varianti182 – 1821T → N in MMAHCD; cblD variant 1. 1 Publication
    VAR_043844
    Natural varianti204 – 23229Missing in MMAHCD; cblD original.
    VAR_043845Add
    BLAST
    Natural varianti249 – 2491Y → C in MMAHCD; cblD variant 1. 1 Publication
    VAR_043846
    Natural varianti259 – 2591L → P in MMAHCD; cblD variant 1. 1 Publication
    VAR_043847

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF060224 mRNA. Translation: AAG43124.1. Frameshift.
    AF131802 mRNA. Translation: AAD20048.1.
    AF161510 mRNA. Translation: AAF29125.1.
    AK313284 mRNA. Translation: BAG36092.1.
    AC110782 Genomic DNA. Translation: AAY14891.1.
    CH471058 Genomic DNA. Translation: EAX11533.1.
    CH471058 Genomic DNA. Translation: EAX11534.1.
    CH471058 Genomic DNA. Translation: EAX11535.1.
    CH471058 Genomic DNA. Translation: EAX11537.1.
    BC000932 mRNA. Translation: AAH00932.1.
    BC010894 mRNA. Translation: AAH10894.1.
    BC022859 mRNA. Translation: AAH22859.1.
    BC023995 mRNA. Translation: AAH23995.1.
    CCDSiCCDS2189.1.
    RefSeqiNP_056517.1. NM_015702.2.
    UniGeneiHs.5324.

    Genome annotation databases

    EnsembliENST00000303319; ENSP00000301920; ENSG00000168288.
    ENST00000428879; ENSP00000389060; ENSG00000168288.
    GeneIDi27249.
    KEGGihsa:27249.
    UCSCiuc002txc.3. human.

    Polymorphism databases

    DMDMi68565296.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF060224 mRNA. Translation: AAG43124.1 . Frameshift.
    AF131802 mRNA. Translation: AAD20048.1 .
    AF161510 mRNA. Translation: AAF29125.1 .
    AK313284 mRNA. Translation: BAG36092.1 .
    AC110782 Genomic DNA. Translation: AAY14891.1 .
    CH471058 Genomic DNA. Translation: EAX11533.1 .
    CH471058 Genomic DNA. Translation: EAX11534.1 .
    CH471058 Genomic DNA. Translation: EAX11535.1 .
    CH471058 Genomic DNA. Translation: EAX11537.1 .
    BC000932 mRNA. Translation: AAH00932.1 .
    BC010894 mRNA. Translation: AAH10894.1 .
    BC022859 mRNA. Translation: AAH22859.1 .
    BC023995 mRNA. Translation: AAH23995.1 .
    CCDSi CCDS2189.1.
    RefSeqi NP_056517.1. NM_015702.2.
    UniGenei Hs.5324.

    3D structure databases

    ProteinModelPortali Q9H3L0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 118097. 2 interactions.
    STRINGi 9606.ENSP00000301920.

    PTM databases

    PhosphoSitei Q9H3L0.

    Polymorphism databases

    DMDMi 68565296.

    Proteomic databases

    MaxQBi Q9H3L0.
    PaxDbi Q9H3L0.
    PRIDEi Q9H3L0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000303319 ; ENSP00000301920 ; ENSG00000168288 .
    ENST00000428879 ; ENSP00000389060 ; ENSG00000168288 .
    GeneIDi 27249.
    KEGGi hsa:27249.
    UCSCi uc002txc.3. human.

    Organism-specific databases

    CTDi 27249.
    GeneCardsi GC02M150426.
    GeneReviewsi MMADHC.
    HGNCi HGNC:25221. MMADHC.
    HPAi HPA037531.
    MIMi 277410. phenotype.
    611935. gene.
    neXtProti NX_Q9H3L0.
    Orphaneti 308380. Methylcobalamin deficiency type cblDv1.
    79283. Methylmalonic acidemia with homocystinuria, type cblD.
    308442. Vitamin B12-responsive methylmalonic acidemia, type cblDv2.
    PharmGKBi PA164723053.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG276245.
    HOGENOMi HOG000231797.
    InParanoidi Q9H3L0.
    OrthoDBi EOG7RBZ9D.
    PhylomeDBi Q9H3L0.
    TreeFami TF314208.

    Enzyme and pathway databases

    Reactomei REACT_163862. Cobalamin (Cbl, vitamin B12) transport and metabolism.
    REACT_169256. Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD.

    Miscellaneous databases

    GeneWikii MMADHC.
    GenomeRNAii 27249.
    NextBioi 50175.
    PROi Q9H3L0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H3L0.
    Bgeei Q9H3L0.
    Genevestigatori Q9H3L0.

    Family and domain databases

    InterProi IPR019362. MMADHC.
    [Graphical view ]
    PANTHERi PTHR13192. PTHR13192. 1 hit.
    Pfami PF10229. DUF2246. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Mao Y.M., Xie Y., Zheng Z.H., Gu S.H., Ying K., Lin Q., Dai J.L., Tang R., Dong H., Wu X.Z.
      Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Fetal brain.
    2. Mei G., Yu W., Gibbs R.A.
      Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    3. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
      Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
      , Gu J., Chen S.-J., Chen Z.
      Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Umbilical cord blood.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Skeletal muscle.
    5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain, Kidney, Placenta and Skeletal muscle.
    8. Cited for: FUNCTION, TISSUE SPECIFICITY, VARIANTS MMAHCD LEU-ALA-GLU-PRO-LEU-SER-108 INS; ASN-182; 204-PHE--ALA-232 DEL; CYS-249 AND PRO-259.
    9. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-203, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. "Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism."
      Mah W., Deme J.C., Watkins D., Fung S., Janer A., Shoubridge E.A., Rosenblatt D.S., Coulton J.W.
      Mol. Genet. Metab. 108:112-118(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiMMAD_HUMAN
    AccessioniPrimary (citable) accession number: Q9H3L0
    Secondary accession number(s): B2R895, D3DP91, O95891
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 5, 2005
    Last sequence update: July 5, 2005
    Last modified: October 1, 2014
    This is version 92 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3